Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

387

Name

RHOA

Synonymous

ras homolog family member A;RHOA;ras homolog family member A

Definition

Aplysia ras-related homolog 12|h12|oncogene RHO H12|ras homolog gene family, member A|rho cDNA clone 12|small GTP binding protein RhoA|transforming protein RhoA

Position

3p21.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.18.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.224C>G; p.P75R; 3:49368481-49368481

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.224C>G; p.P75R; 3:49368481-49368481

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.524C>T; p.T175M; 3:49360267-49360267

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.156+1G>A; p.?; 3:49375433-49375433

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.219C>T; p.S73S; 3:49368486-49368486

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.413C>T; p.P138L; 3:49360378-49360378

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.187C>A; p.Q63K; 3:49368518-49368518

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.116T>G; p.F39C; 3:49375474-49375474

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.253delT; p.S85fs*8; 3:49368452-49368452

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.65T>C; p.L22P; 3:49375525-49375525

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.125A>T; p.Y42F; 3:49375465-49375465

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.125A>T; p.Y42F; 3:49375465-49375465

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.482C>A; p.A161E; 3:49360309-49360309

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.442G>A; p.A148T; 3:49360349-49360349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>A; p.G17E; 3:49375540-49375540

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>A; p.G17E; 3:49375540-49375540

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.50G>T; p.G17V; 3:49375540-49375540

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.13C>T; p.R5W; 3:49375577-49375577

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.13C>T; p.R5W; 3:49375577-49375577

 breastcarcinomaSubstitution - Missense

c.13C>T; p.R5W; 3:49375577-49375577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.13C>T; p.R5W; 3:49375577-49375577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.13C>T; p.R5W; 3:49375577-49375577

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.49G>A; p.G17R; 3:49375541-49375541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.227A>T; p.D76V; 3:49368478-49368478

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.227A>T; p.D76V; 3:49368478-49368478

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.323C>T; p.P108L; 3:49362581-49362581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.324C>T; p.P108P; 3:49362580-49362580

 skinmalignant_melanomaSubstitution - coding silent

c.461T>G; p.F154C; 3:49360330-49360330

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>C; p.Y42S; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>C; p.Y42S; 3:49375465-49375465

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.125A>C; p.Y42S; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.133G>T; p.D45Y; 3:49375457-49375457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.65T>G; p.L22R; 3:49375525-49375525

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.65T>G; p.L22R; 3:49375525-49375525

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.123C>G; p.N41K; 3:49375467-49375467

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.123C>G; p.N41K; 3:49375467-49375467

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.223C>T; p.P75S; 3:49368482-49368482

 skinmalignant_melanomaSubstitution - Missense

c.182C>T; p.A61V; 3:49368523-49368523

 large_intestine; colonNSSubstitution - Missense

c.561_562insA; p.S188fs*>7; 3:49360229-49360230

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.275_276delTA; p.L92fs*1; 3:49368429-49368430

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.581G>A; p.*194*; 3:49360210-49360210

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.240_253del14; p.L81fs*5; 3:49368452-49368465

 stomachcarcinoma; adenocarcinomaDeletion - Frameshift

c.14G>T; p.R5L; 3:49375576-49375576

 oesophaguscarcinomaSubstitution - Missense

c.220T>G; p.Y74D; 3:49368485-49368485

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.318C>G; p.F106L; 3:49362586-49362586

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.68T>G; p.I23R; 3:49375522-49375522

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.70G>T; p.V24F; 3:49375520-49375520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.318C>G; p.F106L; 3:49362586-49362586

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.176A>G; p.D59G; 3:49368529-49368529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.176A>G; p.D59G; 3:49368529-49368529

 prostatecarcinomaSubstitution - Missense

c.101A>G; p.Y34C; 3:49375489-49375489

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.101A>G; p.Y34C; 3:49375489-49375489

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.101A>G; p.Y34C; 3:49375489-49375489

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.101A>G; p.Y34C; 3:49375489-49375489

 oesophaguscarcinomaSubstitution - Missense

c.101A>G; p.Y34C; 3:49375489-49375489

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.223C>A; p.P75T; 3:49368482-49368482

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.505G>A; p.E169K; 3:49360286-49360286

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.226G>A; p.D76N; 3:49368479-49368479

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.316T>G; p.F106V; 3:49362588-49362588

 skinmalignant_melanomaSubstitution - Missense

c.517A>C; p.M173L; 3:49360274-49360274

 livercarcinomaSubstitution - Missense

c.482C>T; p.A161V; 3:49360309-49360309

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.118G>C; p.E40Q; 3:49375472-49375472

 breastcarcinomaSubstitution - Missense

c.118G>C; p.E40Q; 3:49375472-49375472

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482C>T; p.A161V; 3:49360309-49360309

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.49G>T; p.G17*; 3:49375541-49375541

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.49G>T; p.G17*; 3:49375541-49375541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.49G>T; p.G17*; 3:49375541-49375541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>G; p.Y42C; 3:49375465-49375465

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.206T>C; p.L69P; 3:49368499-49368499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.100T>A; p.Y34N; 3:49375490-49375490

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.206T>G; p.L69R; 3:49368499-49368499

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.206T>G; p.L69R; 3:49368499-49368499

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.454G>T; p.G152C; 3:49360337-49360337

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.65T>A; p.L22H; 3:49375525-49375525

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.118G>T; p.E40*; 3:49375472-49375472

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.373G>C; p.E125Q; 3:49362531-49362531

 breastcarcinomaSubstitution - Missense

c.185G>A; p.G62E; 3:49368520-49368520

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.185G>A; p.G62E; 3:49368520-49368520

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.119A>T; p.E40V; 3:49375471-49375471

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.464G>T; p.G155V; 3:49360327-49360327

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.169T>G; p.L57V; 3:49368536-49368536

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.169T>G; p.L57V; 3:49368536-49368536

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.169T>G; p.L57V; 3:49368536-49368536

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.169T>G; p.L57V; 3:49368536-49368536

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.76A>G; p.S26G; 3:49375514-49375514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.76A>G; p.S26G; 3:49375514-49375514

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.110C>T; p.T37I; 3:49375480-49375480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.169T>G; p.L57V; 3:49368536-49368536

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.R5Q; 3:49375576-49375576

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.210G>A; p.R70R; 3:49368495-49368495

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.14G>A; p.R5Q; 3:49375576-49375576

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.179C>A; p.T60K; 3:49368526-49368526

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.514G>A; p.E172K; 3:49360277-49360277

 skinmalignant_melanomaSubstitution - Missense

c.514G>A; p.E172K; 3:49360277-49360277

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.253_254insT; p.S85fs*6; 3:49368451-49368452

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.50G>C; p.G17A; 3:49375540-49375540

 breastcarcinomaSubstitution - Missense

c.506A>G; p.E169G; 3:49360285-49360285

 livercarcinomaSubstitution - Missense

c.321T>A; p.C107*; 3:49362583-49362583

 livercarcinomaSubstitution - Nonsense

c.321T>A; p.C107*; 3:49362583-49362583

 livercarcinomaSubstitution - Nonsense

c.429A>G; p.E143E; 3:49360362-49360362

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.175G>A; p.D59N; 3:49368530-49368530

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.551G>A; p.G184E; 3:49360240-49360240

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.182C>A; p.A61D; 3:49368523-49368523

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.115T>G; p.F39V; 3:49375475-49375475

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.182C>A; p.A61D; 3:49368523-49368523

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.184G>A; p.G62R; 3:49368521-49368521

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.175G>T; p.D59Y; 3:49368530-49368530

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>G; p.D76G; 3:49368478-49368478

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.227A>G; p.D76G; 3:49368478-49368478

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.192A>C; p.E64D; 3:49368513-49368513

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.231C>T; p.T77T; 3:49368474-49368474

 skinmalignant_melanomaSubstitution - coding silent

c.263G>T; p.S88I; 3:49368442-49368442

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.424G>A; p.E142K; 3:49360367-49360367

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.49_51delGGA; p.G17del; 3:49375539-49375541

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaDeletion - In frame

c.118G>A; p.E40K; 3:49375472-49375472

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

')